The CCALD, which is caused by a mutation of the ABCD1 gene that encodes a peroxisomal membrane protein, progresses to a stage where the patient is in a vegetative state and can cause death within 3-5 yr after the appearance of neurological symptoms.
This study aims to determine the degree of acetylcholinesterase inhibition and neurological symptoms for each of the psychiatric disorders diagnosed in the farm workers of a rural population in the state of Baja California, Mexico.
ACP5 deficiency is known to cause spondyloenchondrodysplasia (SPENCD), which is characterized by various autoimmune and neurological symptoms in addition to short stature.
In conclusion, we demonstrate that PHEV utilizes the integrin α5β1-FAK-Rac1/Cdc42-PAK-LIMK-cofilin pathway to cause an actin cytoskeletal rearrangement to promote its own invasion, providing theoretical support for the development of PHEV pathogenic mechanisms and new antiviral targets.<b>IMPORTANCE</b> PHEV, a member of the <i>Coronaviridae</i> family, is a typical neurotropic virus that primarily affects the nervous system of piglets to produce typical neurological symptoms.
Systematic testing of ADAMTS13 activity and anti-ADAMTS13 antibodies in patients who present with neurological symptoms and thrombocytopenia, in the presence of antiphospholipid antibodies, may help with the diagnosis of the rare thrombotic thrombocytopenic purpura-antiphospholipid syndrome combination.
The association highlighted between loss of VWF-HMWM, detectable anti-ADAMTS13 IgG and neurological symptoms may offer new insights to understanding the pathophysiology of acquired auto-immune TTP.
The increased awareness and availability of ADAMTS13 testing has also made it possible to detect atypical presentations of TTP such as patients with macrovascular neurological symptoms without accompanying hematological findings as well as help diagnose other causes of thrombotic microangiopathies e.g. atypical hemolytic uremic syndrome.
Only three cases with neurological disorders have been reported, although more than 50 mutations of the ADAR1 gene causing DSH have been reported and none of them had any neurological symptoms.
A de novo C-terminal mutation (R1465W) in the adhesion GPCR BAI2 (also known as ADGRB2) was identified in a patient suffering from progressive spastic paraparesis and other neurological symptoms.
Furthermore, five patients with NPHP1 mutations carried the AHI1 variant R830W, which was predicted to be "possibly damaging" and was found with significantly higher frequency than in healthy control subjects and in patients with NPHP1 mutations without neurologic symptoms (five of 26 versus four of 276 and three of 152 alleles; P < 0.001 and P < 0.002, respectively).
The pathogenicity of the novel mycobacterium and its clinical significance are not certain, as the neurological symptoms of the patient could also be due to concomitant infection with Cryptococcus neoformans.The name Mycobacterium doricum sp. nov. is proposed for the novel mycobacterium; the type strain is strain FI-13295T (= DSM 44339T = CIP 106867T).
Acute porphyric attacks, precipitated by fasting, certain hormones and some drugs, involve induction of 5-ALAS secondarily to depletion of the above pool, and the resultant elevation of 5-ALA levels initiates the abdominal and neurological symptoms of attacks.
Sjögren-Larsson syndrome is a rare disorder that consists of congenital ichthyosis and neurological symptoms due to an enzymatic defect of fatty aldehyde dehydrogenase in the fatty alcohol cycle.
Toxicologic/transport properties of NCS-382, a γ-hydroxybutyrate (GHB) receptor ligand, in neuronal and epithelial cells: Therapeutic implications for SSADH deficiency, a GABA metabolic disorder.
The Annexin A1 protein was constitutively expressed in all plaques, and Annexin A1 gene expression was statistically higher in patients with asymptomatic disease compared with those with neurological symptoms (87 ± 4% vs. 42 ± 6.2%; p < 0.001, unpaired t-test).
AQP4-Ab-positive patients were more likely to have neurological symptoms (<i>P</i> = 0.002), less likely to experience dermatological manifestations (<i>P</i> = 0.045), and less likely to have detectable anti-dsDNA antibodies (<i>P</i> = 0.022).
Although the patient initially recovered with the reduction of anti-aquaporin-4 antibodies during treatment with intravenous methylprednisolone infusion and plasma exchange, her neurological symptoms deteriorated soon after the completion of plasma exchange.
In contrast to other urea cycle defects, arginase 1 deficiency usually does not cause catastrophic neonatal hyperammonemia but rather presents with progressive neurological symptoms including seizures and spastic paraplegia in the first years of life and hepatic pathology, such as neonatal cholestasis, acute liver failure, or liver fibrosis.
Inherited functional deficiencies of ASA cause the lysosomal storage disease (LSD) metachromatic leukodystrophy (MLD), which is characterized by intralysosomal accumulation of sulfatide, progressive neurological symptoms and early death.